A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6845930



Internal ID9898134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:10420987..10436539hg38UCSC Ensembl
Outerchr12:10573586..10589138hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3815553
hg1915553
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745535
Supporting Variants
SamplesSSM085
Known GenesKLRC2
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6845930
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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